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Rett Syndrome

Rett syndrome is a
unique developmental disorder that is first recognized in infancy and
seen almost always in girls, but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome
is caused by mutations on the X chromosome on a gene called MECP2.
There are more than 200 different mutations found on the MECP2 gene.
Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a developmental disorder. It is not a degenerative disorder.

Rett syndrome
causes problems in brain function that are responsible for cognitive,
sensory, emotional, motor and autonomic function. These can include
learning, speech, sensory sensations, mood, movement, breathing, cardiac
function, and even chewing, swallowing, and digestion.

Rett syndrome
symptoms appear after an early period of apparently normal or near
normal development until six to eighteen months of life, when there is a
slowing down or stagnation of skills. A period of regression then
follows when she loses communication skills and purposeful use of her
hands. Soon, stereotyped hand movements such as handwashing, gait
disturbances, and slowing of the normal rate of head growth become
apparent. Other problems may include seizures and disorganized breathing
patterns while she is awake. In the early years, there may be a period
of isolation or withdrawal when she is irritable and cries inconsolably.
Over time, motor problems may increase, but in general, irritability
lessens and eye contact and communication improve.

Rett syndrome
is confirmed with a simple blood test to identify the MECP2 mutation.
However, since the MECP2 mutation is also seen in other disorders, the
presence of the MECP2 mutation in itself is not enough for the diagnosis
of Rett syndrome. Diagnosis requires either the presence of the
mutation (a molecular diagnosis) or fulfillment of the diagnostic
criteria (a clinical diagnosis, based on signs and symptoms that you can
observe) or both.

Rett syndrome can present with a wide
range of disability ranging from mild to severe. The course and severity
of Rett syndrome is determined by the location, type and severity of
her mutation and X-inactivation. Therefore, two girls of the same age
with the same mutation can appear quite different.

Rett syndrome
presents many challenges, but with love, therapy and assistance, those
with the syndrome can benefit from school and community activities well
into middle age and beyond. They experience a full range of emotions and
show their engaging personalities as they take part in social,
educational, and recreational activities at home and in the community.

You can click here if you would like to learn more about what Rett Syndrome is and the research that is taking place to improve the lives of those affected by it.

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Most of my time is spent getting to know our little gift Chloe and working to enable her big sister Claire. I love motorcycle rides with my husband and walks along the cliffs. I can't believe that God has given me so much, I am just trying to soak it all in.

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or·gan·ic

4 a: forming an integral element of a whole :fundamentalorganic parts of the action — Francis Fergusson>b: having systematic coordination of parts :organizedorganic whole>c: having the characteristics of an organism: developing in the manner of a living plant or animal organic>

1ex·pe·ri·ence

3 a: the conscious events that make up an individual lifeb: the events that make up the conscious past of a community or nation or humankind generally4: something personally encountered, undergone, or lived through5: the act or process of directly perceiving events or reality